AUTHOR=Wei Xia , Fang Yuan , Wang Jian-She , Wang Yi-Zhen , Zhang Yuan , Abuduxikuer Kuerbanjiang , Chen Lian 

TITLE=Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children

JOURNAL=Frontiers in Pediatrics

VOLUME=11

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1094895

DOI=10.3389/fped.2023.1094895

ISSN=2296-2360

ABSTRACT=<sec><title>Background</title><p>Neonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in <italic>DCDC2</italic>, commonly requiring liver transplantation (LT) for decompensated biliary cirrhosis in childhood.</p></sec><sec><title>Methods</title><p>The information of four Chinese patients with NSC caused by mutations in <italic>DCDC2</italic> from Children's Hospital of Fudan University were gathered. The four patients' clinicopathological and molecular features were summarized by clinical data, liver biopsy, immunohistochemical, and molecular genetic analysis.</p></sec><sec><title>Results</title><p>All patients presented with jaundice, hepatosplenomegaly, hyperbilirubinemia and bile embolism, and high serum <italic>γ</italic>-glutamyl transferase activity (GGT). Liver biopsies revealed varying degrees of bile duct hyperplasia, portal-tract inflammation, and/or fibrosis. Whole-exome sequencing (WES) found novel heterozygous variants of c.1024-1G &gt; T /p.? and c.544G &gt; A /p. Gly182Arg in the <italic>DCDC2</italic>.</p></sec><sec><title>Conclusion</title><p>This study expands the genetic spectrum of <italic>DCDC2</italic> in NSC.</p></sec>